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المؤلفون: Tabolacci, Elisabetta, M Grazia Pomponi, Roberta, Pietrobono, Alessandra, Terracciano, Chiurazzi, Pietro, Neri, Giovanni
مصطلحات موضوعية: M.D, Kleefstra andHamel, are clinically recognizableand are considered specific (MRXS). On the otherhand, aDNA sample from patient III-1 became available, 2005]. An updated list of these conditions canbe found in the XLMR Update Web site (http://xlmr.interfree.it/home.htm) and in the dedicatedpage at Greenwood Genetic Center (http://www.ggc.org/xlmr.htm). Some XLMR conditions, in many families the only manifestation sharedby patients is mental retardation. Such MRX pedi-grees are sometimes sufficiently large to allowlinkage analysis yielding a significant LOD score thatwill position the responsible gene in a given locationon the X chromosome. More than 80 MRX familieshavebeen reportedand mutationsin at least21XLMRgenes have been found in 24 of those families (http://xlmr.interfree.it/home.htm). Therefore, Grant number:GGP030202, stop mutationINTRODUCTIONX-linked mental retardation (XLMR) is a clinicallyvariable and genetically heterogeneous condition, Largo F. Vito 1, Settore MED/03 - GENETICA MEDICA, linkageanalysis, such asthe fragile X syndrome, due to mutations in more than 50 genes on the Xchromosome [Chiurazzi et al, IL1RAPL1gene, 1993]. Linkage analysis had positionedthe responsible gene in a large interval between theXp telomere and marker DXS7 (Xp11.4). This 43Mbase interval contained too many genes to allow anefficient mutational screening at random. Recently, Universita`Cattolica, Grant sponsor: Conquer Fragile X Foundation, Italy.E-mail: gneri@rm.unicatt.itDOI 10.1002/ajmg.a.31107, at least 50MRX pedigrees are still in search of a gene. TheMRX21 pedigree (Fig. 1) was reported by us in 1993[Kozak et al, Istituto di Genetica Medica, prompting us to reanalyze this pedigree withmarkers distributed in the previously definedXpter-p11.4 critical region. Our attempt relied alsoon the employment of 31 new DNA markers thatfacilitated the definition of a much smaller linkedGrant sponsor: Fondazione Telethon Onlus, Grantnumber: 2004.*Correspondence to: Giovanni Neri, X-linked mental retardation, 00168 Rome, MRX21, stop mutationINTRODUCTIONX-linked mental retardation (XLMR) is a clinicallyvariable and genetically heterogeneous condition,due to mutations in more than 50 genes on the Xchromosome [Chiurazzi et al., 2004, Kleefstra andHamel, 2005]. An updated list of these conditions canbe found in the XLMR Update Web site (http://xlmr.interfree.it/home.htm) and in the dedicatedpage at Greenwood Genetic Center (http://www.ggc.org/xlmr.htm). Some XLMR conditions, such asthe fragile X syndrome, are clinically recognizableand are considered specific (MRXS). On the otherhand, in many families the only manifestation sharedby patients is mental retardation. Such MRX pedi-grees are sometimes sufficiently large to allowlinkage analysis yielding a significant LOD score thatwill position the responsible gene in a given locationon the X chromosome. More than 80 MRX familieshavebeen reportedand mutationsin at least21XLMRgenes have been found in 24 of those families (http://xlmr.interfree.it/home.htm). Therefore, at least 50MRX pedigrees are still in search of a gene. TheMRX21 pedigree (Fig. 1) was reported by us in 1993[Kozak et al., 1993]. Linkage analysis had positionedthe responsible gene in a large interval between theXp telomere and marker DXS7 (Xp11.4). This 43Mbase interval contained too many genes to allow anefficient mutational screening at random. Recently, aDNA sample from patient III-1 became available,prompting us to reanalyze this pedigree withmarkers distributed in the previously definedXpter-p11.4 critical region. Our attempt relied alsoon the employment of 31 new DNA markers thatfacilitated the definition of a much smaller linkedGrant sponsor: Fondazione Telethon Onlus, Grantnumber: 2004.*Correspondence to: Giovanni Neri, M.D., Istituto di Genetica Medica,Universita`Cattolica, Largo F. Vito 1, 00168 Rome, Italy.E-mail: gneri@rm.unicatt.itDOI 10.1002/ajmg.a.31107
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2601::a5f1cb1d21d7d86adfe5e1b6473af262
https://hdl.handle.net/10807/228433 -
2مورد إلكتروني
مصطلحات الفهرس: X-linked mental retardation, MRX21, linkageanalysi, IL1RAPL1gene, stop mutationINTRODUCTIONX-linked mental retardation (XLMR) is a clinicallyvariable and genetically heterogeneous condition,due to mutations in more than 50 genes on the Xchromosome [Chiurazzi et al., 2004, Kleefstra andHamel, 2005]. An updated list of these conditions canbe found in the XLMR Update Web site (http://xlmr.interfree.it/home.htm) and in the dedicatedpage at Greenwood Genetic Center (http://www.ggc.org/xlmr.htm). Some XLMR conditions, such asthe fragile X syndrome, are clinically recognizableand are considered specific (MRXS). On the otherhand, in many families the only manifestation sharedby patients is mental retardation. Such MRX pedi-grees are sometimes sufficiently large to allowlinkage analysis yielding a significant LOD score thatwill position the responsible gene in a given locationon the X chromosome. More than 80 MRX familieshavebeen reportedand mutationsin at least21XLMRgenes have been found in 24 of those families (http://xlmr.interfree.it/home.htm). Therefore, at least 50MRX pedigrees are still in search of a gene. TheMRX21 pedigree (Fig. 1) was reported by us in 1993[Kozak et al., 1993]. Linkage analysis had positionedthe responsible gene in a large interval between theXp telomere and marker DXS7 (Xp11.4). This 43Mbase interval contained too many genes to allow anefficient mutational screening at random. Recently, aDNA sample from patient III-1 became available,prompting us to reanalyze this pedigree withmarkers distributed in the previously definedXpter-p11.4 critical region. Our attempt relied alsoon the employment of 31 new DNA markers thatfacilitated the definition of a much smaller linkedGrant sponsor: Fondazione Telethon Onlu, Grant number:GGP030202, Grant sponsor: Conquer Fragile X Foundation, Grantnumber: 2004.*Correspondence to: Giovanni Neri, M.D., Istituto di Genetica Medica,Universita`Cattolica, Largo F. Vito 1, 00168 Rome, Italy.E-mail: gneri@rm.unicatt.itDOI 10.1002/ajmg.a.31107, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10807/228433
issue:140
firstpage:482
lastpage:487
numberofpages:6
issueyear:2006
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A